ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.2141A>G (p.His714Arg)

dbSNP: rs2146875731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001970504 SCV002255126 uncertain significance not provided 2021-02-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP250-related conditions. This sequence change replaces histidine with arginine at codon 714 of the CEP250 protein (p.His714Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine.

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